Variant report

Variant	rs72550295
Chromosome Location	chr11:74164915-74164916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:74164836-74169276	SK-N-MC	brain:	n/a	n/a
2	CTCF	chr11:74164308-74164932	MCF-7	breast:	n/a	chr11:74164623-74164636 chr11:74164620-74164638 chr11:74164622-74164643
3	RAD21	chr11:74164424-74164952	SK-N-SH	brain:	n/a	chr11:74164624-74164637 chr11:74164626-74164638 chr11:74164621-74164640 chr11:74164622-74164636 chr11:74164626-74164636
4	RAD21	chr11:74164204-74164926	HCT-116	colon:	n/a	chr11:74164624-74164637 chr11:74164626-74164638 chr11:74164621-74164640 chr11:74164622-74164636 chr11:74164626-74164636
5	SMC3	chr11:74164224-74164954	SK-N-SH	brain:	n/a	chr11:74164622-74164636
6	RAD21	chr11:74164335-74164929	ECC-1	luminal epithelium:	n/a	chr11:74164624-74164637 chr11:74164626-74164638 chr11:74164621-74164640 chr11:74164622-74164636 chr11:74164626-74164636
7	CTCF	chr11:74163989-74165027	A549	lung:	n/a	chr11:74164623-74164636 chr11:74164620-74164638 chr11:74164622-74164643

No.	Distal block	Cell Line	Cell type
1	chr11:74164096..74165130-chr11:74281232..74282332,9	K562	blood:
2	chr11:74164577..74165120-chr11:74214878..74215449,2	MCF-7	breast:
3	chr11:74163885..74165506-chr11:74280069..74282735,2	MCF-7	breast:
4	chr11:74164086..74165074-chr11:74281488..74282054,2	MCF-7	breast:
5	chr11:74159443..74161809-chr11:74164046..74166126,2	K562	blood:
6	chr11:74163738..74165354-chr11:74281298..74282640,17	MCF-7	breast:
7	chr11:74108842..74109637-chr11:74164212..74165105,2	K562	blood:

Variant related genes	Relation type
ENSG00000254928	TF binding region
ENSG00000165434	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7109229	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv555443	chr11:74109166-74180489	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1041154	chr11:74114801-74177909	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv393	chr11:74135862-74181417	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv832209	chr11:74155883-74329119	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74154400-74167600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:74154600-74167400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:74154600-74167800	Weak transcription	Liver	Liver
4	chr11:74154800-74171600	Weak transcription	Fetal Kidney	kidney
5	chr11:74155000-74167400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:74155200-74171200	Weak transcription	Right Atrium	heart
7	chr11:74155600-74167400	Weak transcription	Fetal Intestine Large	intestine
8	chr11:74155600-74169400	Weak transcription	Stomach Mucosa	stomach
9	chr11:74155800-74166800	Weak transcription	Fetal Intestine Small	intestine
10	chr11:74155800-74167600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:74156200-74167400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:74156200-74167800	Weak transcription	Ovary	ovary
13	chr11:74156600-74171400	Weak transcription	Psoas Muscle	Psoas
14	chr11:74160000-74173000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:74160400-74177800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:74160600-74167400	Weak transcription	Fetal Lung	lung
17	chr11:74160600-74173000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:74160800-74167400	Weak transcription	Adipose Nuclei	Adipose
19	chr11:74160800-74167400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:74160800-74171400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:74161000-74170600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:74161000-74171600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:74161000-74173000	Weak transcription	Brain Anterior Caudate	brain
24	chr11:74161200-74167400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:74161200-74167800	Weak transcription	Gastric	stomach
26	chr11:74161400-74169200	Weak transcription	Primary B cells from cord blood	blood
27	chr11:74161400-74172800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:74161800-74166200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr11:74161800-74166800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:74162000-74165600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr11:74163200-74166600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
32	chr11:74163200-74167800	Weak transcription	Placenta	Placenta
33	chr11:74163800-74167400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:74163800-74167400	Weak transcription	Spleen	Spleen
35	chr11:74164400-74171200	Weak transcription	Lung	lung
36	chr11:74164800-74165000	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr11:74164800-74167400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr11:74164800-74167600	Weak transcription	Small Intestine	intestine

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